Canonical Allele Identifier: CA1234468
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs376300655
ExAC: 1:169524633 T / C
gnomAD v2: 1-169524633-T-C
gnomAD v3: 1-169555395-T-C
gnomAD v4: 1-169555395-T-C
MyVariant Identifiers: chr1:g.169524633T>C (hg19) chr1:g.169555395T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169555395T>C , CM000663.2:g.169555395T>C GRCh38
NC_000001.10:g.169524633T>C , CM000663.1:g.169524633T>C GRCh37
NC_000001.9:g.167791257T>C NCBI36
NG_011806.1:g.36137A>G , LRG_553:g.36137A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.953-48A>G MANE Select ENSP00000356771.3:n.953-48A>G
ENST00000367796.3:c.953-48A>G ENSP00000356770.3:n.953-48A>G
ENST00000367797.7:c.953-48A>G ENSP00000356771.3:n.953-48A>G
NM_000130.4:c.953-48A>G , LRG_553t1:c.953-48A>G NP_000121.2:n.953-48A>G
XM_017000660.2:c.542-48A>G XP_016856149.1:n.542-48A>G
NM_000130.5:c.953-48A>G MANE Select NP_000121.2:n.953-48A>G
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